Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FCRL3	115352	broad.mit.edu	37	1	157659663	157659663	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:157659663C>T	uc001fqz.4	-	9	2027	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.G305R|FCRL3_uc001frb.3_Missense_Mutation_p.G579R|FCRL3_uc001frc.1_Missense_Mutation_p.G579R	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	579						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCACCAGCCCCGTGATTCCC	0.567000														43			35		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36666254	36666254	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:36666254C>T	uc010lvw.3	+	6	762	c.675C>T	c.(673-675)tcC>tcT	p.S225S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	225						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGAAGTTTTCCAAACTGCTGT	0.438000														5			8		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175014	57175014	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:57175014C>T	uc010ygn.2	-	1	1780	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTTTCTCCTCCCTGTGAGAG	0.597000														102			77		0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26881367	26881367	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr17:26881367G>A	uc002hbo.2	-	11	1912	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.F505F|PIGS_uc010wap.1_Silent_p.F452F	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	513					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGTCATCAGGGAAATAAAGGA	0.557000														99			78		0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97278218	97278218	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:97278218A>T	uc002swn.4	-	7	1141	c.995T>A	c.(994-996)gTg>gAg	p.V332E	KANSL3_uc002swh.4_Missense_Mutation_p.V220E|KANSL3_uc002swi.4_Missense_Mutation_p.V233E|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.V245E|KANSL3_uc010fhz.3_Missense_Mutation_p.V126E|KANSL3_uc002swl.4_Missense_Mutation_p.V233E|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.V126E|KANSL3_uc002swp.1_Missense_Mutation_p.V233E|KANSL3_uc002swq.1_Missense_Mutation_p.V104E|KANSL3_uc010fhy.1_Missense_Mutation_p.V233E	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	332																	TTTGCTTCTCACTGCCCCAAT	0.507000														122			104		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381609	156381609	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr5:156381609C>T	uc003lwh.2	-	1	274	c.217G>A	c.(217-219)Gga>Aga	p.G73R	TIMD4_uc010jii.2_Missense_Mutation_p.G73R	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	73	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCCTCATTCCATCAGTGCGG	0.517000														87			46		0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140785560	140785560	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:140785560A>G	uc003ett.3	+	1	859	c.614A>G	c.(613-615)aAg>aGg	p.K205R	SPSB4_uc010hum.3_Missense_Mutation_p.K205R	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	205	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGAGGTCTCAAGGGCAAGAAG	0.622000														41			36		0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140394000	140394000	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:140394000T>C	uc003ihv.3	+	1	799	c.410T>C	c.(409-411)cTa>cCa	p.L137P		NM_031296	NP_112586	Q9H082	RB33B_HUMAN	Homo sapiens RAB33B, member RAS oncogene family (RAB33B), mRNA.	137					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					CAACATTTGCTAGCCAATGAT	0.398000														106			73		0	0	1	0	0
DQ586822	0	broad.mit.edu	37	15	84945189	84945189	+	RNA	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:84945189G>A	uc002bke.2	-	0		c.2061C>T								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		TATCTACGGGGAGGGCCGTGC	0.582000														19			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048836	9048836	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:9048836C>T	uc002mkp.3	-	4	32999	c.32795G>A	c.(32794-32796)gGa>gAa	p.G10932E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10934	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCACCACTCCTGGTACCCC	0.493000														112			75		0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123570	108123570	+	Missense_Mutation	SNP	C	T	T	rs141353650		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr9:108123570C>T	uc004bcn.3	+	7	1080	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	SLC44A1_uc004bco.1_Missense_Mutation_p.R79W	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	287						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.R287L(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGACAATCTTCGGGCCCTCCT	0.453000														78			63		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787063	121787063	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr5:121787063G>A	uc003ksw.1	+	9	2727	c.2521G>A	c.(2521-2523)Ggc>Agc	p.G841S	SNCAIP_uc011cwl.1_Missense_Mutation_p.G399S|SNCAIP_uc003ksy.1_Missense_Mutation_p.G475S|SNCAIP_uc003ksx.1_Missense_Mutation_p.G888S|SNCAIP_uc003ksz.1_Missense_Mutation_p.G475S|SNCAIP_uc010jcu.2_Missense_Mutation_p.G437S|SNCAIP_uc011cwm.1_Missense_Mutation_p.G475S|SNCAIP_uc003kta.1_Missense_Mutation_p.G473S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G535S|SNCAIP_uc010jcx.1_Missense_Mutation_p.G781S|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.G357S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	841					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAAAGATAAGGGCAGGACTCT	0.478000														97			46		0	0	1	0	0
ALG1L2	644974	broad.mit.edu	37	3	129810158	129810158	+	Silent	SNP	C	T	T	rs6803922	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:129810158C>T	uc011bld.2	+	1	261	c.75C>T	c.(73-75)gaC>gaT	p.D25D	ALG1L2_uc010hth.3_Non-coding_Transcript	NM_001136152	NP_001129624	C9J202	AG1L2_HUMAN	Homo sapiens asparagine-linked glycosylation 1-like 2 (ALG1L2), mRNA.	25					biosynthetic process		transferase activity, transferring glycosyl groups										CACCTCTGGACCTGCAGCACC	0.587000														54			4		0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3659657	3659657	+	RNA	SNP	G	A	A	rs2298222	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:3659657G>A	uc001akt.4	-	2		c.1158C>T			TP73-AS1_uc021ofj.1_Non-coding_Transcript|TP73-AS1_uc021ofk.1_Non-coding_Transcript|TP73-AS1_uc021ofl.1_Non-coding_Transcript|TP73-AS1_uc009vlm.3_Non-coding_Transcript					Homo sapiens TP73 antisense RNA 1 (non-protein coding) (TP73-AS1), transcript variant 5, non-coding RNA.																		AGAGGCCGCCGGGAACAGGCA	0.577000														11			4		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37903859	37903859	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:37903859C>T	uc003asx.1	-	5	1185	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Missense_Mutation_p.E104K|CARD10_uc003asy.1_Missense_Mutation_p.E390K	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	390					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTCTCAATCTCCTCCAGTTGG	0.612000														137			100		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145119000	145119000	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:145119000A>T	uc003qkt.3	+	62	9211	c.9119A>T	c.(9118-9120)gAt>gTt	p.D3040V		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	3040	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGTTTATAGATTGGATGCAT	0.378000														49			31		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965933	123965933	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:123965933C>T	uc022bag.1	+	0	2183	c.2183C>T	c.(2182-2184)cCa>cTa	p.P728L	ZHX2_uc003ypk.1_Missense_Mutation_p.P728L	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	728						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GATGTGGTTCCACAATATTAC	0.527000														177			64		0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84649805	84649805	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:84649805G>A	uc003pkf.3	+	12	1271	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	380	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGTCCTGAGGGCAATTTTAAA	0.338000														33			13		0	0	1	0	0
NCF1C	654817	broad.mit.edu	37	7	74582397	74582398	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:74582397_74582398GG>AA	uc003ubv.3	-	3	406_407	c.267_268CC>TT	c.(265-270)cacctc>caTTtc	p.L90F	NCF1C_uc011kfn.2_Missense_Mutation_p.L90F|NCF1C_uc011kfo.2_Missense_Mutation_p.L88F					Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA.																		AAGTCAAGGAGGTGGGGACAGC	0.614000														59			17		0	0	1	0	0
SYNJ2BP-COX16	100529257	broad.mit.edu	37	14	70855211	70855211	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr14:70855211G>A	uc021rvn.1	-	1	304	c.177C>T	c.(175-177)ctC>ctT	p.L59L	SYNJ2BP-COX16_uc021rvm.1_Silent_p.L59L|SYNJ2BP-COX16_uc021rvo.1_Silent_p.L59L|SYNJ2BP-COX16_uc001xmc.4_Silent_p.L59L	NM_001202547	NP_001189476			Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.																		CACCCTCCTGGAGCCGCCCAT	0.567000														38			24		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748622	96748622	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:96748622G>A	uc001kka.4	+	8	1335	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	CYP2C9_uc009xut.3_Missense_Mutation_p.G435E	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	437					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATTTGTGTGGGAGAAGCCCTG	0.453000														110			134		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063279	194063279	+	Silent	SNP	C	T	T	rs141207947		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:194063279C>T	uc003fts.3	-	1	243	c.153G>A	c.(151-153)acG>acA	p.T51T	CPN2_uc021xix.1_Silent_p.T51T	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	51					protein stabilization	extracellular region	enzyme regulator activity	p.T51T(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGATGTTTTTCGTATATGGCG	0.537000														99			54		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234536942	234536942	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:234536942C>T	uc001hwd.3	-	24	4056	c.4056G>A	c.(4054-4056)aaG>aaA	p.K1352K		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1352					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GACAATAATCCTTGAGTGGGT	0.363000														5			9		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294202	124294202	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:124294202G>A	uc010sak.2	-	0	566	c.566C>T	c.(565-567)aCc>aTc	p.T189I		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATGGGTGCTGGTGCAGGAGAG	0.488000														6			20		0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														26			3		0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151316245	151316245	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:151316245G>A	uc001exv.1	-	8	883	c.669C>T	c.(667-669)atC>atT	p.I223I	RFX5_uc001exw.1_Silent_p.I223I|RFX5_uc010pcx.1_Silent_p.I183I	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	223						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGACCTCAACGATGGAACTGA	0.592000														70			50		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279124	105279124	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:105279124C>T	uc010npd.3	-	1	1110	c.875G>A	c.(874-876)tGg>tAg	p.W292*	SERPINA7_uc004eme.2_Nonsense_Mutation_p.W292*|SERPINA7_uc010npe.2_Nonsense_Mutation_p.W292*	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	292					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TAAGCGGTTCCACTTCTTCAG	0.493000														29			136		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980683	121980683	+	Silent	SNP	C	T	T	rs148721982		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:121980683C>T	uc003eew.4	+	3	1239	c.801C>T	c.(799-801)atC>atT	p.I267I	CASR_uc003eev.4_Silent_p.I267I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	267					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.I267I(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAAAGTCATCGTGGTTTTCT	0.527000														110			83		0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49020365	49020365	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:49020365G>A	uc003cvb.3	+	14	1675	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	ARIH2_uc003cvc.3_Missense_Mutation_p.E455K|ARIH2_uc003cvf.3_Missense_Mutation_p.E373K|ARIH2_uc010hkl.3_Missense_Mutation_p.E373K	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	455					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GGCTGAGATCGAAAACCTCTC	0.537000														60			34		0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249110787	249110787	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:249110787C>T	uc001iew.1	-	3	873	c.321G>A	c.(319-321)ggG>ggA	p.G107G	SH3BP5L_uc010pzp.1_5'Flank|SH3BP5L_uc001iev.1_5'UTR	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	107										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGATGCAGCTCCCCAAGTGGG	0.587000														62			6		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055739	167055739	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:167055739C>T	uc010fpl.3	-	26	5718	c.5377G>A	c.(5377-5379)Gat>Aat	p.D1793N	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1804						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTGCAAAATCAGAGAGTTTA	0.473000														115			76		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98411281	98411281	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:98411281C>T	uc001kmq.3	-	4	968	c.840G>A	c.(838-840)gtG>gtA	p.V280V	PIK3AP1_uc001kmp.3_Silent_p.V102V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	280	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACATGAATTCCACAGGATTCG	0.408000														63			66		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341061	121341061	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:121341061G>A	uc003eeg.2	+	2	995	c.785G>A	c.(784-786)gGc>gAc	p.G262D		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	262					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAAGGAGAGGGCGCTCCCAAA	0.488000														33			30		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891242	2891242	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr18:2891242G>A	uc002kln.3	+	3	1276	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	373					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGGGAGAAGGAAACAAGCCT	0.502000														112			38		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25313374	25313374	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:25313374C>A	uc001isi.4	+	2	1551	c.1222C>A	c.(1222-1224)Cct>Act	p.P408T	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.P408T	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	408					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TGCATTTTTTCCTGAGAATGG	0.388000														106			50		4.18559e-23	4.44425e-23	1	1	0
ERN2	10595	broad.mit.edu	37	16	23703314	23703314	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:23703314C>T	uc002dma.4	-	18	2659	c.2490G>A	c.(2488-2490)tgG>tgA	p.W830*	ERN2_uc010bxp.3_Nonsense_Mutation_p.W778*	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	782	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGGCTCTGCTCCAAAAGAAGG	0.587000														272			206		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26400778	26400778	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:26400778C>T	uc003abz.1	+	41	6677	c.6427C>T	c.(6427-6429)Cct>Tct	p.P2143S	MYO18B_uc003aca.1_Missense_Mutation_p.P2024S|MYO18B_uc010guy.1_Missense_Mutation_p.P2025S|MYO18B_uc010guz.1_Missense_Mutation_p.P2023S|MYO18B_uc011aka.1_Missense_Mutation_p.P1297S|MYO18B_uc011akb.1_Missense_Mutation_p.P1656S|MYO18B_uc010gva.1_Missense_Mutation_p.P126S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2143						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TATGAGGACTCCTTCTCGACA	0.547000														110			61		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96480165	96480165	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:96480165C>A	uc001kjv.4	+	5	1158	c.832C>A	c.(832-834)Caa>Aaa	p.Q278K	CYP2C19_uc001kjw.4_Missense_Mutation_p.Q219K|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	278					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAGCACAATCAACAGTCTGA	0.333000														59			22		2.54575e-18	2.67304e-18	1	1	0
SEPT3	55964	broad.mit.edu	37	22	42388750	42388750	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:42388750C>A	uc003bbr.4	+	7	986	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	SEPT3_uc003bbs.4_Missense_Mutation_p.P283Q|SEPT3_uc011apj.2_Missense_Mutation_p.P219Q|SEPT3_uc010gys.3_Missense_Mutation_p.P63Q	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	Homo sapiens septin 3 (SEPT3), transcript variant A, mRNA.	283					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CGAAAAACTCCATGGGGGATC	0.493000														14			9		9.70103e-10	9.91078e-10	1	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51656392	51656392	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:51656392G>A	uc002pvv.1	+	6	1363	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	SIGLEC7_uc002pvw.1_Missense_Mutation_p.E339K|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_3'UTR	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	432					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.E431E(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAGGGGAGGAAAGAGAGAT	0.532000														140			73		0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109252269	109252269	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:109252269G>A	uc003ymu.3	-	2	269	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	EIF3E_uc003ymt.3_Silent_p.L32L|EIF3E_uc010mcj.1_Silent_p.L81L	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	81	Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AGCTGTTTCAGTTGTGCAACC	0.378000														95			39		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131765234	131765234	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr9:131765234C>A	uc004bws.1	+	36	4298	c.4276C>A	c.(4276-4278)Cac>Aac	p.H1426N	NUP188_uc004bwu.3_Missense_Mutation_p.H769N	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1426					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CGTGGGTGTCCACCAGGAGCG	0.592000														37			32		8.16721e-17	8.48133e-17	1	1	0
OR2A1	346528	broad.mit.edu	37	7	143929631	143929631	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:143929631G>A	uc011kub.2	-	0	306	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					AACTCAAACAGAGAAAGGTCT	0.557000														124			183		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138594141	138594141	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr9:138594141G>T	uc011mdq.2	+	0	111	c.37G>T	c.(37-39)Gtc>Ttc	p.V13F	KCNT1_uc011mdr.2_5'UTR|KCNT1_uc010nbf.3_Missense_Mutation_p.V13F|SOHLH1_uc010nbe.3_5'Flank|SOHLH1_uc004cgl.3_5'Flank	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	13						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		cccggggggcgtctgccggga	0.731000														22			14		7.93312e-07	8.06107e-07	1	1	0
PRPF31	26121	broad.mit.edu	37	19	54625942	54625942	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:54625942C>T	uc002qdh.2	+	4	785	c.389C>T	c.(388-390)cCc>cTc	p.P130L	PRPF31_uc010yek.1_Missense_Mutation_p.P130L|PRPF31_uc021vbi.1_Missense_Mutation_p.P130L	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	130					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCTTGGTCCCCAATGCACTG	0.572000														147			98		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37485814	37485814	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:37485814G>A	uc003aqt.1	-	6	702	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	TMPRSS6_uc003aqs.1_Missense_Mutation_p.R223C|TMPRSS6_uc003aqu.3_Missense_Mutation_p.R214C	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	223	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.A214S(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGCTGTAGCGGTAACAACCT	0.677000														20			6		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416315	124416315	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:124416315C>T	uc001uft.4	+	73	12720	c.12695C>T	c.(12694-12696)tCg>tTg	p.S4232L	DNAH10_uc001ufu.4_Missense_Mutation_p.S145L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4232					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCCCACTTCGGTGGTGCTC	0.522000														24			65		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30955377	30955377	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:30955377C>G	uc021vfn.1	-	18	1886	c.1854G>C	c.(1852-1854)agG>agC	p.R618S	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R614S	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	618					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTCGCTGTACCTGAGGGTCA	0.607000														22			10		0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2903149	2903149	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:2903149C>T	uc002cry.1	-	5	965	c.899G>A	c.(898-900)gGg>gAg	p.G300E		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	300					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GGCCCCACCCCCCTGAGCGCG	0.736000														25			20		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641808	142641808	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:142641808C>T	uc003wcb.3	-	11	1545	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	445					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A445A(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CATCCCGGATCGCAGTGAATA	0.602000														21			25		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12978144	12978144	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:12978144G>A	uc003bxt.2	-	2	423	c.414C>T	c.(412-414)gcC>gcT	p.A138A	IQSEC1_uc003bxu.3_Silent_p.A16A|IQSEC1_uc011auw.1_Silent_p.A124A	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	138	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGATGGTGCGGGCCGCATGGC	0.592000														19			17		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141799531	141799531	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:141799531A>C	uc003vwy.3	+	43	5234	c.5180A>C	c.(5179-5181)cAc>cCc	p.H1727P		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1727	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.H1727P(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGAACACCCACTTAAGGTAA	0.478000														37			22		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747764	61747764	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:61747764G>A	uc002eog.2	-	9	2590	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	545	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTTGATGGTGAAATTCGGAT	0.323000														32			19		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340310	55340310	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:55340310C>T	uc010rih.2	+	0	707	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AAAGCACTTTCCACATGTGTC	0.408000														56			38		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112322892	112322892	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:112322892G>A	uc001ebu.1	-	4	1896	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	KCND3_uc001ebv.1_Silent_p.I472I	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	472						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCTGGCTCTCGATGAGTGAGG	0.522000														2			5		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57858949	57858949	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:57858949T>A	uc001snx.3	+	4	539	c.445T>A	c.(445-447)Ttt>Att	p.F149I	GLI1_uc021qzi.1_Missense_Mutation_p.F108I|GLI1_uc009zpq.3_Missense_Mutation_p.F21I	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	149					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCGCCTTCCTTTGGGGTCCA	0.582000														53			32		0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31478032	31478032	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:31478032G>T	uc010vfn.2	+	7	3039	c.2915G>T	c.(2914-2916)cGg>cTg	p.R972L	ARMC5_uc010vfo.2_Missense_Mutation_p.R909L|ARMC5_uc002ecc.3_Missense_Mutation_p.R877L|ARMC5_uc002eca.4_3'UTR|ARMC5_uc002ecb.2_3'UTR|ARMC5_uc010vfp.2_Missense_Mutation_p.R685L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	877							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGCCTGGGCCGGCCCCGGCTG	0.721000														7			10		0.0692343	0.0692343	1	1	0
OR4C45	403257	broad.mit.edu	37	11	48367516	48367516	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:48367516G>A	uc010rhw.2	-	1	303	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_001005513	NP_001005513			Homo sapiens olfactory receptor, family 4, subfamily C, member 45 (OR4C45), mRNA.																		CTGCCTCAAAGAAATGTTCTG	0.512000														8			3		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100013927	100013927	+	Splice_Site	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:100013927C>T	uc003uut.3	-	7	879	c.631_splice	c.e7+1	p.H211_splice	ZCWPW1_uc011kjq.2_Splice_Site_p.Q90_splice|ZCWPW1_uc003uur.3_Splice_Site_p.Q90_splice|ZCWPW1_uc003uus.3_Splice_Site_p.Q90_splice|ZCWPW1_uc011kjr.2_Splice_Site_p.Q210_splice|ZCWPW1_uc003uuu.1_Splice_Site_p.Q210_splice	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	211							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTGTACTTACGAGCTTCCTT	0.463000														91			91		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102992106	102992106	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:102992106C>T	uc001phn.1	+	9	1510	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*	DYNC2H1_uc009yxe.1_Nonsense_Mutation_p.R456*|DYNC2H1_uc001pho.2_Nonsense_Mutation_p.R456*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	456	Stem (By similarity).		R -> Q (in dbSNP:rs17099969).		Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATAGATTTTCGATTAGACTT	0.353000														6			15		0	0	1	0	0
GNGT1	2792	broad.mit.edu	37	7	93540176	93540176	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:93540176C>T	uc003unc.1	+	2	319	c.171C>T	c.(169-171)atC>atT	p.I57I	GNGT1_uc003umx.1_Non-coding_Transcript	NM_021955	NP_068774	P63211	GBG1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 (GNGT1), mRNA.	57					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TAAAGGGCATCCCAGAGGACA	0.388000														86			31		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19351414	19351414	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:19351414T>C	uc002nlz.3	+	11	3511	c.3412T>C	c.(3412-3414)Ttt>Ctt	p.F1138L	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1138	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCTGCAGGCTTTGGGCATGA	0.632000														71			37		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25965349	25965349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:25965349G>A	uc002rgs.2	-	11	4078	c.3857C>T	c.(3856-3858)cCc>cTc	p.P1286L	ASXL2_uc002rgt.1_Missense_Mutation_p.P769L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAAGCTCGGGGCTGCTACG	0.532000														17			21		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118969804	118969804	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr9:118969804C>T	uc004bjn.3	+	2	1929	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	PAPPA_uc011lxp.1_Silent_p.F309F|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	516	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCAATATTTTCTTTGCAAAAT	0.433000														46			20		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458698	45458698	+	RNA	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:45458698C>T	uc001rol.3	-	0		c.497G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GAACCAGATTCATCGCTAATT	0.433000														7			19		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297755	139297755	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:139297755C>T	uc003etj.3	-	1	292	c.252G>A	c.(250-252)gaG>gaA	p.E84E	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.E47E|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	84					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CCTGCTCACTCTCCCAAGGGT	0.592000														49			33		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001176	121001176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:121001176C>T	uc003eec.4	+	19	2314	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	STXBP5L_uc011bji.2_Intron	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	725					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCCGTACTTCCTATCAGAGT	0.393000														27			16		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5754592	5754592	+	Silent	SNP	G	A	A	rs111234281	byFrequency	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:5754592G>A	uc003gil.1	+	8	1312	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	376					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGGGGCGGGCGCACATGGCAA	0.587000														70			42		0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	282216	282216	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:282216T>C	uc002loh.3	-	4	801	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	PPAP2C_uc002loi.3_Missense_Mutation_p.Y212C|PPAP2C_uc002loj.3_Missense_Mutation_p.Y156C	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	212					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCGGGTGTAGCCCACGTA	0.592000														30			32		0	0	1	0	0
CYB5R4	51167	broad.mit.edu	37	6	84649789	84649789	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:84649789G>C	uc003pkf.3	+	12	1255	c.1123G>C	c.(1123-1125)Gta>Cta	p.V375L		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	375	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TTTTGTTTCTGTAAGCAGTCC	0.338000														28			15		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50155945	50155945	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:50155945G>C	uc002poq.3	+	6	2423	c.2299G>C	c.(2299-2301)Ggg>Cgg	p.G767R		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	767	Ser-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCGGGAGAAGGGGTCTCGTCG	0.701000														2			6		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51264790	51264790	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:51264790C>T	uc011bds.2	+	15	1477	c.1454C>T	c.(1453-1455)cCt>cTt	p.P485L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	485	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTAATAGTCCTCGCTGGGGA	0.473000														98			68		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10521700	10521700	+	Missense_Mutation	SNP	C	T	T	rs139950075	byFrequency	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:10521700C>T	uc001min.1	+	10	1997	c.1652C>T	c.(1651-1653)cCa>cTa	p.P551L	AMPD3_uc010rbz.1_Missense_Mutation_p.P383L|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.P542L|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.P549L|AMPD3_uc009yfy.2_Missense_Mutation_p.P542L	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	542					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GACAAGAGCCCAAACCCGGAC	0.567000														93			54		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41652434	41652434	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:41652434G>A	uc003gvz.4	+	17	3262	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R	LIMCH1_uc003gwe.4_Missense_Mutation_p.G564R|LIMCH1_uc003gvu.4_Missense_Mutation_p.G564R|LIMCH1_uc003gvv.4_Missense_Mutation_p.G564R|LIMCH1_uc003gvw.4_Missense_Mutation_p.G564R|LIMCH1_uc003gvx.4_Missense_Mutation_p.G552R|LIMCH1_uc003gvy.4_Missense_Mutation_p.G393R|LIMCH1_uc003gwa.4_Missense_Mutation_p.G405R|LIMCH1_uc011byu.2_Missense_Mutation_p.G398R|LIMCH1_uc003gwc.4_Missense_Mutation_p.G410R|LIMCH1_uc003gwd.4_Missense_Mutation_p.G398R|LIMCH1_uc011byv.2_Missense_Mutation_p.G315R	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	564					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CAGTGTGAATGGAGAGACGGT	0.458000														52			20		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27529115	27529115	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:27529115C>T	uc002rjo.3	+	6	1204	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	TRIM54_uc002rjn.3_Missense_Mutation_p.R343W	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	301	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGCAGGGCGGCCGGAGCC	0.647000														65			48		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138642	55138642	+	Missense_Mutation	SNP	C	T	T	rs143344944		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:55138642C>T	uc003han.4	+	8	1650	c.1319C>T	c.(1318-1320)aCg>aTg	p.T440M	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.T334M|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	440	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCTGAAGGCACGCCGCTTCCT	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				59			36		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30330842	30330842	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr21:30330842C>T	uc002ymr.2	-	13	2764	c.2751G>A	c.(2749-2751)ctG>ctA	p.L917L		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	871							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAGTATTTTTCAGTTTACAGA	0.338000														34			18		0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633346	106633346	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:106633346G>A	uc001tlk.3	-	1	1349	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	422						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CACCTGCATGGAGAGCACCCC	0.657000														65			46		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182783380	182783380	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:182783380C>T	uc002uoi.3	+	11	3165	c.2843C>T	c.(2842-2844)tCa>tTa	p.S948L	SSFA2_uc002uoh.3_Missense_Mutation_p.S948L|SSFA2_uc002uoj.3_Missense_Mutation_p.S948L|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.S795L|SSFA2_uc002uol.3_Missense_Mutation_p.S795L|SSFA2_uc002uom.3_Missense_Mutation_p.S416L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	948						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCAGAAATCATCTGTTCTA	0.313000														33			21		0	0	1	0	0
DEM1	64789	broad.mit.edu	37	1	40981102	40981102	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:40981102C>T	uc001cfp.3	+	2	1091	c.886C>T	c.(886-888)Cac>Tac	p.H296Y	DEM1_uc001cfq.3_Missense_Mutation_p.H296Y|DEM1_uc001cfr.3_Missense_Mutation_p.H296Y|DEM1_uc021omb.1_Missense_Mutation_p.H296Y	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	296							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						TGAGTATATCCACCAAGAGAC	0.468000														117			72		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464742	2464742	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr20:2464742G>A	uc002wge.1	-	5	1353	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	ZNF343_uc010gao.1_Missense_Mutation_p.R289C|ZNF343_uc002wgd.1_Missense_Mutation_p.R199C	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GAGTGTATACGATGGTGTCTG	0.478000														60			60		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42244228	42244228	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:42244228C>T	uc003cky.3	+	12	1944	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	TRAK1_uc011azh.2_Silent_p.I576I|TRAK1_uc011azi.2_Silent_p.I576I|TRAK1_uc003ckz.4_Silent_p.I502I|TRAK1_uc011azj.2_Silent_p.I502I|TRAK1_uc003cla.3_Silent_p.I518I	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	576					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGCTCCAGATCGTGAAGCCGC	0.652000														45			32		0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30314530	30314530	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:30314530C>T	uc003nqf.2	+	4	458	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	TRIM39-RPP21_uc010jsa.2_Silent_p.S485S|TRIM39-RPP21_uc021yuc.1_Silent_p.S144S|TRIM39-RPP21_uc003nqe.2_Silent_p.S136S|TRIM39-RPP21_uc003nqd.2_Silent_p.S159S	NM_001199121	NP_001186050	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens ribonuclease P/MRP 21kDa subunit (RPP21), transcript variant 3, mRNA.	0						intracellular	zinc ion binding										CAGCCCACTCCATTTCAGACC	0.433000														47			137		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74459660	74459660	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:74459660C>T	uc002sko.1	-	18	2712	c.2710G>A	c.(2710-2712)Gac>Aac	p.D904N	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.D904N|SLC4A5_uc010ffc.1_Missense_Mutation_p.D904N|SLC4A5_uc002skp.1_Missense_Mutation_p.D802N|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	904						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGAGGCTGTCGATGTGGGCG	0.612000														97			73		0	0	1	0	0
C15orf33	196951	broad.mit.edu	37	15	49663536	49663536	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:49663536G>A	uc001zxl.2	-	11	1367	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F		NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	358										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TTCTTCCTTGGATATGGGCAA	0.269000														53			38		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13721894	13721894	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:13721894G>T	uc001mld.3	+	2	375	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	FAR1_uc009ygp.3_Missense_Mutation_p.D74Y	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	74					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TGAAAATCCAGATTTTAGAGA	0.328000														24			24		9.57634e-11	9.83657e-11	1	1	0
FAM90A1	55138	broad.mit.edu	37	12	8377401	8377401	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:8377401C>T	uc001qui.2	-	3	587	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	FAM90A1_uc001quh.2_Missense_Mutation_p.G10R	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	10							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CTCTTTGCCCCAGGTTTGGGG	0.587000														34			12		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424275	56424275	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:56424275G>T	uc010ygg.2	-	4	933	c.908C>A	c.(907-909)cCa>cAa	p.P303Q		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	303	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGCTTCTCTGGTTGAGACAT	0.423000														74			42		7.63091e-17	7.96819e-17	1	1	0
APEX2	27301	broad.mit.edu	37	X	55028697	55028697	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:55028697C>T	uc004dtz.3	+	2	331	c.255C>T	c.(253-255)ttC>ttT	p.F85F	APEX2_uc011mom.2_Intron	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	85					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TAGCCACCTTCTGTAAGGACA	0.542000								Other BER factors						3			35		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73205720	73205720	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr5:73205720G>A	uc010izf.3	+	33	4821	c.4645G>A	c.(4645-4647)Gag>Aag	p.E1549K	RGNEF_uc011csq.2_Missense_Mutation_p.E1549K|RGNEF_uc021yam.1_Missense_Mutation_p.E1549K|RGNEF_uc011csr.2_Missense_Mutation_p.E1236K|RGNEF_uc003kcz.4_Missense_Mutation_p.E513K|RGNEF_uc003kda.4_Missense_Mutation_p.E469K	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1549	Interaction with microtubules (By similarity).				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GGGTGGCCCCGAGGTATGGAC	0.647000														14			7		0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93755394	93755394	+	Splice_Site	SNP	A	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:93755394A>C	uc003drc.3	+	5	772	c.487_splice	c.e5-2	p.E163_splice	ARL13B_uc010hop.3_Splice_Site_p.E14_splice|ARL13B_uc003drf.3_Splice_Site_p.E163_splice|ARL13B_uc003drg.3_Splice_Site_p.E60_splice|ARL13B_uc003drd.3_Splice_Site_p.E56_splice|ARL13B_uc003dre.3_Splice_Site_p.E148_splice	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	163							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TTTCTGTTTTAGGAACCATGT	0.313000														39			27		0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183792896	183792896	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:183792896C>A	uc002upc.3	-	28	3531	c.3129G>T	c.(3127-3129)ttG>ttT	p.L1043F	NCKAP1_uc002upb.3_Missense_Mutation_p.L1049F	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	1043					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATTGTAAACAAAGCTGCAG	0.368000														54			24		3.65163e-15	3.77135e-15	1	1	0
CYP11A1	1583	broad.mit.edu	37	15	74630382	74630382	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:74630382G>A	uc002axt.2	-	8	1652	c.1497C>T	c.(1495-1497)ctC>ctT	p.L499L	CYP11A1_uc002axs.2_Silent_p.L341L|CYP11A1_uc010bjm.1_Silent_p.L341L|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	499					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCATCAGAATGAGGTTGAATG	0.532000														75			37		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44914522	44914522	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:44914522A>T	uc001ztx.3	-	12	2371	c.2340T>A	c.(2338-2340)aaT>aaA	p.N780K	SPG11_uc010ueh.2_Missense_Mutation_p.N780K|SPG11_uc010uei.2_Missense_Mutation_p.N780K|SPG11_uc001ztz.1_5'Flank	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	780					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGAAAAATAATTTTTTTCTT	0.274000														13			10		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57605312	57605312	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:57605312C>T	uc001snd.3	+	84	13600	c.13134C>T	c.(13132-13134)gtC>gtT	p.V4378V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4378	EGF-like 22.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.V4378F(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACCTGCGTCGGCCACTGCA	0.637000														37			37		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530310	140530310	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr5:140530310G>A	uc003lir.3	+	0	472	c.472G>A	c.(472-474)Gat>Aat	p.D158N		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	158	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H157H(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGCACACGATTTAGACAC	0.488000														211			163		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185114	53185114	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:53185114G>A	uc001say.3	-	6	1477	c.1411C>T	c.(1411-1413)Cta>Tta	p.L471L		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	471	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTGCTGTAGAGCAGCCTGC	0.607000														31			55		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748790	43748790	+	Silent	SNP	G	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:43748790G>T	uc001zrs.3	-	11	2149	c.2001C>A	c.(1999-2001)atC>atA	p.I667I	TP53BP1_uc010udp.2_Silent_p.I667I|TP53BP1_uc001zrq.4_Silent_p.I672I|TP53BP1_uc001zrr.4_Silent_p.I672I|TP53BP1_uc010udq.1_Silent_p.I672I	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	667					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTGTCTCAGGGATTTCTTCCA	0.463000								Other conserved DNA damage response genes						118			80		1.91123e-38	2.0408e-38	1	1	0
F10	2159	broad.mit.edu	37	13	113798367	113798367	+	Silent	SNP	C	T	T	rs137995645	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr13:113798367C>T	uc001vsx.3	+	5	762	c.705C>T	c.(703-705)atC>atT	p.I235I	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.I235I	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	235	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCAGGATCGTGGGAGGCC	0.622000														102			62		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151138714	151138714	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:151138714G>A	uc004ffi.3	-	1	271	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	73					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R73G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGGATGCGAGAGGCTTCT	0.547000														24			132		0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12613781	12613781	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:12613781C>T	uc003bxd.3	+	3	607	c.551C>T	c.(550-552)gCc>gTc	p.A184V	MKRN2_uc011aus.2_Missense_Mutation_p.A141V	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	184						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TTTGGGGATGCCTGTGTCTAC	0.577000														45			26		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827345	96827345	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:96827345C>T	uc001kkb.3	-	1	367	c.272G>A	c.(271-273)gGa>gAa	p.G91E	CYP2C8_uc010qoa.2_Missense_Mutation_p.G21E|CYP2C8_uc010qoc.2_Intron|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_Missense_Mutation_p.G21E|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	91					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	p.N90N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AAACTCCTCTCCATTATCAAT	0.428000														119			37		0	0	1	0	0
GOLGA6L10	647042	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:83014132C>G	uc021ssz.1	-	5	551	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript			A6NI86	GG6LA_HUMAN	Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.	151								p.E151Q(4)		endometrium(1)|kidney(4)	5						GCTGGGGGCTCTGGGGCCAGG	0.522000														7			3		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506361	11506361	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:11506361C>T	uc001qzw.1	-	3	710	c.673G>A	c.(673-675)Gga>Aga	p.G225R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	287	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGTTGCCTCCTTGTGGGGGT	0.607000														137			209		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141110585	141110585	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:141110585C>T	uc002tvj.1	-	75	12559	c.11587G>A	c.(11587-11589)Gga>Aga	p.G3863R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3863	EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTATATGATCCTTCCACATTT	0.343000										TSP Lung(27;0.18)				46			37		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152312	100152312	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr10:100152312C>T	uc001kpc.3	-	9	1025	c.939G>A	c.(937-939)aaG>aaA	p.K313K	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	313							oxidoreductase activity	p.A312V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCACCTGCACCTTCGCCACTG	0.527000														101			43		0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416327	30416327	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:30416327C>T	uc003agv.4	+	16	3007	c.2679C>T	c.(2677-2679)ccC>ccT	p.P893P	MTMR3_uc003agu.4_Silent_p.P893P|MTMR3_uc003agw.4_Silent_p.P893P	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	893					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCGAGAGGCCCCAAGTGGGGT	0.552000														69			59		0	0	1	0	0
RPL23P8	222901	broad.mit.edu	37	7	20867419	20867419	+	RNA	SNP	A	G	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:20867419A>G	uc011jyj.1	+	0		c.503A>G								Homo sapiens ribosomal protein L23 pseudogene 8 (RPL23P8), non-coding RNA.																		AAAATTTTAAACCCATTAAAA	0.338000														32			11		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200959121	200959121	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:200959121C>T	uc001gvs.2	-	20	3398	c.3081G>A	c.(3079-3081)ctG>ctA	p.L1027L	KIF21B_uc009wzl.2_Silent_p.L1027L|KIF21B_uc001gvr.2_Silent_p.L1027L|KIF21B_uc010ppn.2_Silent_p.L1027L	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1027					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGGCTTCAGCCAGGGAGCAGG	0.622000														48			35		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373585	62373585	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:62373585G>A	uc010rly.1	-	12	1914	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	EML3_uc001ntr.1_Missense_Mutation_p.R508C|EML3_uc001nts.1_Missense_Mutation_p.R508C|EML3_uc001ntt.1_Missense_Mutation_p.R420C|EML3_uc001ntu.1_Missense_Mutation_p.R536C|EML3_uc009yny.1_Missense_Mutation_p.R319C			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	536						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCAGCCGGCGGTCCCGCCCG	0.647000														126			73		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8717816	8717816	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr20:8717816G>A	uc002wnb.3	+	19	2188	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PLCB1_uc010zrb.1_Missense_Mutation_p.E628K|PLCB1_uc002wna.3_Missense_Mutation_p.E729K|PLCB1_uc002wnc.1_Missense_Mutation_p.E628K|PLCB1_uc002wnd.1_Missense_Mutation_p.E306K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	729	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCTGGGAAGAAGAACCTAT	0.378000														39			21		0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910653	38910653	+	Splice_Site	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:38910653G>A	uc021uub.1	-	6	724	c.510_splice	c.e6-1	p.L170_splice	RASGRP4_uc010efz.2_Splice_Site|RASGRP4_uc010ega.2_Intron|RASGRP4_uc021utz.1_Splice_Site_p.L170_splice|RASGRP4_uc021uua.1_Splice_Site_p.L170_splice|RASGRP4_uc021uuc.1_Splice_Site_p.L170_splice|RASGRP4_uc021uud.1_Splice_Site_p.L170_splice|RASGRP4_uc021uue.1_Splice_Site_p.L170_splice|RASGRP4_uc021uuf.1_Intron	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	170	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGGCTCAGGCTGGGGGCCA	0.627000														23			23		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														44			4		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345264	5345264	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:5345264C>T	uc001mao.1	-	0	319	c.264G>A	c.(262-264)agG>agA	p.R88R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTAATCTCCCTGTGATTCA	0.493000														80			55		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014631	53014631	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:53014631C>T	uc002pzp.4	+	5	1241	c.997C>T	c.(997-999)Cat>Tat	p.H333Y		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CCTTACATGCCATCATAGGTG	0.428000														93			42		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676069	62676069	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:62676069C>T	uc021ooc.1	+	4	2058	c.1623C>T	c.(1621-1623)ccC>ccT	p.P541P	L1TD1_uc001dae.4_Silent_p.P541P	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	541								p.P541P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CAGCTGTGCCCACAAGTCAAG	0.458000														57			27		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61895704	61895704	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr17:61895704C>T	uc002jbu.3	+	18	3020	c.2763C>T	c.(2761-2763)gaC>gaT	p.D921D	DDX42_uc002jbv.3_Silent_p.D921D|DDX42_uc002jbx.3_Silent_p.D657D|DDX42_uc002jby.3_Silent_p.D467D|DDX42_uc010wps.2_Silent_p.D289D	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	921					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGACAGCTGACGGCTTTGCTG	0.473000														91			52		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	T	T	rs145638725		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:158261127C>T	uc001fru.3	+	1	557	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	89					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000														54			46		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40080504	40080504	+	Splice_Site	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:40080504G>A	uc003ayc.3	+	36	6027	c.6027_splice	c.e36+1	p.Q2009_splice	CACNA1I_uc003ayd.3_Splice_Site_p.Q1974_splice|CACNA1I_uc003aye.3_Missense_Mutation_p.V1925I|CACNA1I_uc003ayf.3_Missense_Mutation_p.V1890I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	2009					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCTCCGGCAGGTACCGACACC	0.627000														12			10		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50171585	50171586	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:50171585_50171586CC>TT	uc001zxu.3	-	23	2910_2911	c.2768_2769GG>AA	c.(2767-2769)ggg>gAA	p.G923E	ATP8B4_uc010ber.3_Missense_Mutation_p.G796E|ATP8B4_uc010ufd.2_Missense_Mutation_p.G733E|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_5'Flank	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	923					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGTCAAAAATCCCCATGGCTAA	0.322000														23			10		0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686584	108686584	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr12:108686584G>A	uc009zuw.3	-	2	347	c.156C>T	c.(154-156)ttC>ttT	p.F52F	CMKLR1_uc001tmw.3_Silent_p.F52F|CMKLR1_uc001tmv.3_Silent_p.F50F|CMKLR1_uc009zuv.3_Silent_p.F52F|CMKLR1_uc021rdj.1_Silent_p.F50F	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	52					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GAATCCCGAGGAAGCAGACGA	0.502000														69			58		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31266492	31266492	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:31266492C>T	uc003aiy.1	+	2	1034	c.930C>T	c.(928-930)tcC>tcT	p.S310S	OSBP2_uc011ala.1_Silent_p.S145S|OSBP2_uc010gwc.1_Silent_p.S137S|OSBP2_uc003aix.1_Silent_p.S310S|OSBP2_uc011alb.1_Silent_p.S310S|OSBP2_uc003aiz.1_Silent_p.S310S|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.2_Silent_p.S52S	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	310					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGAATCTTTCCCTGAAGTTAG	0.562000														45			33		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74317022	74317022	+	Splice_Site	SNP	A	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:74317022A>T	uc002skb.4	+	5	2484	c.2484_splice	c.e5-2	p.D828_splice		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	828							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTGTGTTGCAGCCGGACCTG	0.567000														140			97		0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105846165	105846165	+	Splice_Site	SNP	C	G	G			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr14:105846165C>G	uc001yqu.3	+	10	1554	c.1050_splice	c.e10+1	p.P350_splice	PACS2_uc001yqs.2_Splice_Site_p.P275_splice|PACS2_uc001yqt.3_Splice_Site_p.P350_splice|PACS2_uc001yqv.3_Splice_Site_p.P350_splice	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	350					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCCCAAGCCCGGTGAGTGGG	0.652000														53			24		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83357100	83357100	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:83357100C>T	uc004eej.2	-	17	1757	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	RPS6KA6_uc011mqt.2_Missense_Mutation_p.G574E|RPS6KA6_uc011mqu.2_Missense_Mutation_p.G471E	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	574	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCCATTTTCTCCTCGAAGTTG	0.368000														16			5		0	0	1	0	0
C22orf40	150383	broad.mit.edu	37	22	46641032	46641032	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr22:46641032G>A	uc003bhe.3	-	3	370	c.329C>T	c.(328-330)gCt>gTt	p.A110V	C22orf40_uc003bhf.3_Non-coding_Transcript	NM_207327	NP_997210	Q6NVV7	CV040_HUMAN	Homo sapiens chromosome 22 open reading frame 40 (C22orf40), mRNA.	110										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTTTGATGGAGCTTTCCTTTT	0.557000														78			44		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121262884	121262884	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:121262884G>A	uc003yox.3	+	21	2896	c.2631G>A	c.(2629-2631)gtG>gtA	p.V877V	COL14A1_uc003yoy.3_Silent_p.V555V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	877	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAACGTTTGTGGGAGCTGACA	0.428000														101			40		0	0	1	0	0
ZDHHC20	253832	broad.mit.edu	37	13	21961722	21961722	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr13:21961722G>C	uc001uoa.2	-	8	977	c.779C>G	c.(778-780)tCt>tGt	p.S260C	ZDHHC20_uc001uod.3_Non-coding_Transcript|ZDHHC20_uc001uoc.3_Non-coding_Transcript|ZDHHC20_uc001uoe.3_Non-coding_Transcript|ZDHHC20_uc010tcs.2_Missense_Mutation_p.S197C	NM_153251	NP_694983	Q5W0Z9	ZDH20_HUMAN	Homo sapiens zinc finger, DHHC-type containing 20 (ZDHHC20), mRNA.	260						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		GCATCCAAGAGAGAAACCATT	0.318000														2			3		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15978067	15978067	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:15978067C>T	uc010lsu.3	-	8	1200	c.1136G>A	c.(1135-1137)gGg>gAg	p.G379E	MSR1_uc003wwz.3_Missense_Mutation_p.G361E|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	361	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCCACCCTCCCCTCGTGAGG	0.493000														18			62		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659520	176659520	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:176659520C>T	uc001gkz.3	+	4	3549	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	PAPPA2_uc001gky.1_Silent_p.F795F|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	795					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGTGGCTTCACTCGCTTCC	0.557000														105			74		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617301	70617301	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr8:70617301A>C	uc003xyl.3	-	5	2294	c.1587T>G	c.(1585-1587)atT>atG	p.I529M	SLCO5A1_uc010lzb.3_Missense_Mutation_p.I474M|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.I529M|SLCO5A1_uc010lzc.2_Missense_Mutation_p.I474M	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	529						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCCTAGATTAATGCTTTCAC	0.433000														64			51		0	0	1	0	0
RBP1	5947	broad.mit.edu	37	3	139237310	139237310	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:139237310C>T	uc003eti.2	-	2	604	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	103						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CCACGCCCCTCCTTCTCACCC	0.602000														56			36		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75937920	75937920	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr4:75937920C>T	uc003hih.2	+	1	582	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	110					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCTGGGTTCTCGTCAACAAGC	0.547000														125			82		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124113992	124113992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:124113992G>A	uc003ehg.3	+	11	2094	c.1967G>A	c.(1966-1968)tGg>tAg	p.W656*	KALRN_uc010hrv.1_Nonsense_Mutation_p.W656*|KALRN_uc003ehf.1_Nonsense_Mutation_p.W656*|KALRN_uc011bjy.1_Nonsense_Mutation_p.W656*|KALRN_uc003ehh.1_Nonsense_Mutation_p.W15*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	656					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGTGGACATGGATGGAAGAC	0.542000														28			30		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086346	171086346	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr1:171086346C>T	uc001ghi.3	+	8	1474	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	FMO3_uc001ghh.3_Missense_Mutation_p.P455S|FMO3_uc010pmb.2_Missense_Mutation_p.P435S|FMO3_uc010pmc.2_Missense_Mutation_p.P392S	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	455					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTCACAGATCCCAAATTGGC	0.493000														67			43		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					38			61		0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1962089	1962089	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr16:1962089G>A	uc002cnf.3	-	1	438	c.438C>T	c.(436-438)atC>atT	p.I146I	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	146										endometrium(2)|lung(2)	4						GCACCACCACGATCAGCTTCG	0.692000														25			8		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71360146	71360146	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chrX:71360146C>T	uc011mqa.2	+	5	2748	c.2748C>T	c.(2746-2748)ctC>ctT	p.L916L	NHSL2_uc004eak.1_Silent_p.L550L|NHSL2_uc010nli.2_Silent_p.L685L	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	916										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CGAGACCACTCCCTCAAGACA	0.542000														8			29		0	0	1	0	0
BC071797	0	broad.mit.edu	37	21	9767585	9767585	+	RNA	SNP	A	C	C			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr21:9767585A>C	uc011abu.2	+	8		c.713A>C								Homo sapiens, clone IMAGE:4720764, mRNA.																		AAAGGGAAACAATATAAGAAA	0.303000														2			2		0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14141628	14141628	+	Silent	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:14141628C>T	uc002mxw.1	+	1	297	c.297C>T	c.(295-297)gcC>gcT	p.A99A	IL27RA_uc002mxx.3_5'Flank|RLN3_uc010dzj.1_3'UTR	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	Homo sapiens relaxin 3 (RLN3), mRNA.	99						extracellular region	hormone activity			endometrium(1)|lung(4)	5						CACCCCAGGCCTTTTACAGGG	0.642000														64			68		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220100289	220100289	+	Silent	SNP	C	T	T	rs140463651	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr2:220100289C>T	uc002vkg.3	+	10	1959	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y	ANKZF1_uc002vkh.3_Silent_p.Y385Y|ANKZF1_uc002vki.3_Silent_p.Y595Y	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	595						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGATGCCTACGATTACAACA	0.493000														57			49		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331954	83331954	+	Silent	SNP	G	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr15:83331954G>A	uc010uoi.2	-	21	2706	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P	AP3B2_uc010uoh.2_Silent_p.P824P|AP3B2_uc010uoj.2_Silent_p.P792P|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Silent_p.P460P	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	824					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAATTGCTGGGGGAGACACAG	0.602000														24			12		0	0	1	0	0
ANKRD20A3	441425	broad.mit.edu	37	9	67938633	67938633	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr9:67938633G>T	uc004aeu.3	+	5	880	c.768G>T	c.(766-768)aaG>aaT	p.K256N	ANKRD20A3_uc010mnn.3_Missense_Mutation_p.K256N	NM_001012419	NP_115626	Q5VUR7	A20A3_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.	256								p.K256N(2)									AACATAAAAAGAAGATACTTA	0.249000														6			3		0.014758	0.0149158	1	1	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														66			6		0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31583499	31583499	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr20:31583499C>T	uc002wyi.3	-	7	553	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	154					spermatogenesis			p.E154K(2)|p.G153E(1)|p.G153W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCCTGGATTTCCCCACTGTGA	0.507000														146			102		0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs60664426		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	0	30_35	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	14					rRNA processing|ribosomal small subunit biogenesis	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													---	4	---	---	2	---					
USP42	84132	broad.mit.edu	37	7	6196639	6196651	+	Frame_Shift_Del	DEL	GGATGGAAAGCAG	-	-			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr7:6196639_6196651delGGATGGAAAGCAG	uc011jwo.1	+	15	4019_4031	c.3896_3908delGGATGGAAAGCAG	c.(3895-3909)cggatggaaagcaggfs	p.R1299fs	USP42_uc011jwp.2_Frame_Shift_Del_p.R1299fs|USP42_uc011jwq.2_Frame_Shift_Del_p.R1106fs	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	1299					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AAACACTTACGGATGGAAAGCAGGGATGACAGG	0.498													---	38	---	---	7	---					
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	CAG	CAG	rs56194704		TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr11:6662745_6662746insCAG	uc001mem.1	-	1	500_501	c.99_100insCTG	c.(97-102)insCTG	p.33_34insL		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639													---	9	---	---	6	---					
NLRP9	338321	broad.mit.edu	37	19	56249721	56249722	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A42Z-01A-12D-A24R-08	TCGA-EB-A42Z-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38250869-6a70-452f-83b0-ea53699714a4	fb86b319-a7ec-4577-9aa7-8875a28edcd9	g.chr19:56249721_56249722insA	uc002qly.3	-	0	47_48	c.19_20insT	c.(19-21)tcgfs	p.S7fs		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	7	DAPIN.					cytoplasm	ATP binding	p.S7S(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCAAAATCCGAAAAAAAAGAT	0.396													---	195	---	---	7	---